In the Scientific Center of Pediatrics and Pediatric Surgery, a master class on "Mucopolysaccharidosis patients management" was held with the participation of a foreign specialist.

Mucopolysaccharidosis - a genetic disease associated with a violation of the production of certain enzymes by the body, which contributes to the development of severe physical and neurological symptoms.

46 doctors of the pediatric profile from all regions of Kazakhstan took part in the master class: pulmonologists, neurologists, anesthetists, otorhinolaryngologists, orthopedists, and others.

A specialist from the Center for Rare Diseases in Wiesbaden (Germany), Doctor of Medicine Christina Lampe shared her experience with the treatment of mucopolysaccharidosis with her Kazakh counterparts. The republican coordinator for Mucopolysaccharidosis, the doctor of medical sciences, the children's gastroenterologist of the consulting and diagnostic department of the pediatric center Myra Sharipova, the assistant to the department of children's diseases of the Kazakh National Medical University Asel Tulebaeva also took part in the event.

The aim of the workshop was to train specialists in theoretical and practical aspects of modern methods of treating children with mucopolysaccharidosis, the possibility of correcting various complications and their prevention.

The questions on the possibility of drug-induced correction of the respiratory organs, nervous and musculoskeletal systems in mucopolysaccharidosis, indications for their surgical treatment, difficulties in anesthetics for patients with mucopolysaccharidosis and ways to overcome them were discussed in detail at the master class. A great deal of attention was paid to possible undesirable reactions to enzyme replacement drugs, as well as measures for their elimination and prevention. In addition, domestic specialists reported on the current state of the problem of mucopolysaccharidosis in Kazakhstan, presented complex clinical cases for analysis in an interactive format.

Maira Sharipova says: "Since 2011, the Scientific Center for Pediatrics and Pediatric Surgery has been identified as the coordinator for the diagnosis and treatment of mucopolysaccharidosis in children in Kazakhstan. Therefore, our center constantly conducts educational activities among specialists of the pediatric profile in the form of conferences, master classes, lectures on the diagnosis and treatment of various rare diseases. Memos for parents and patients on the main early symptoms, diagnosis and treatment of mucopolysaccharidosis in children have been issued. Methodical recommendations "Algorithm of early diagnosis of some rare diseases in children (mucopolysaccharidosis, Gaucher's disease, cystic fibrosis and primary immunodeficiencies) have been published." All this contributes to the popularization of knowledge on rare diseases among doctors and the timely diagnosis of these diseases. Early detection of mucopolysaccharidosis is of great importance, since timely treatment starts affecting the effectiveness of therapy and the outcome of the disease. The main problem at the present time is the diagnosis of congenital metabolic diseases, in Kazakhstan there are no clinical laboratories for the study of lysosomal enzymes. All studies are conducted in laboratories of Germany or Russia. It is necessary to create a centralized laboratory for hereditary metabolic diseases in our country equipped with modern equipment (spectrophotometer with 630 nm software, real-time PCR for conducting molecular genetic studies). It is required to establish a quantitative determination of GAGs in urine to monitor the effectiveness of enzyme replacement therapy. Also acute is the issue of organizing physical and socio-psychological rehabilitation of children with mucopolysaccharidosis. It is worth emphasizing that at present all patients with mucopolysaccharidosis I, II and VI types receive very expensive enzyme preparations for free, at the expense of budgetary funds. Already this year, it is planned to provide drugs and patients with type IV mucopolysaccharidosis. In addition, a number of regulatory and legal documents on orphan diseases have been developed and approved, including the Roadmap for the Introduction of New Standards for the Diagnosis and Treatment of Rare Diseases in Children in the Republic of Kazakhstan for 2017-2019. Within the framework of which regional coordinators for rare (orphan) diseases have been appointed in each oblast of the country and measures have been planned to improve the quality of medical care for patients with rare diseases. "

"The Kazakhstani" Mucopolysaccharidosis Patients Foundation "specifically invited children with their parents from various cities of the country to this event to receive a consultation of doctors on this rare disease. The parents had the opportunity in a personal conversation with the famous European specialist for the treatment of MPS Christina Lampe to learn about the peculiarities of the psycho-physical development of patients with MPS, to get answers to their concerns, thereby providing them with a lot of psychological support, "said Ruslan Sarmurzakov, director of the Mucopolysaccharidosis Patients Foundation.

All the participants of the master class received as a gift from the Memorandum for Rare Diseases Foundation, issued this year in two languages - Kazakh and Russian, where basic information on all types of Mukopolisaharidozo is available in an accessible form.

Organized this event was the Kazakhstan Mucopolysaccharidosis Patient Foundation and the Scientific Center for Pediatrics and Pediatric Surgery.

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